Canonical Allele Identifier: CA2695205217
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642448_117642463dup , CM000669.2:g.117642448_117642463dup GRCh38
NC_000007.13:g.117282502_117282517dup , CM000669.1:g.117282502_117282517dup GRCh37
NC_000007.12:g.117069738_117069753dup NCBI36
NG_016465.4:g.181665_181680dup , LRG_663:g.181665_181680dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3528_3543dup ENSP00000497673.2:p.Arg1182TrpfsTer16
ENST00000647978.2:c.*3442_*3457dup ENSP00000497658.1:n.*3442_*3457dup
ENST00000649781.2:c.3545_3560dup ENSP00000497203.1:p.Ser1190AsnfsTer19
ENST00000685018.2:c.3728_3743dup ENSP00000510194.2:p.Ser1251AsnfsTer19
ENST00000687278.2:c.*381_*396dup ENSP00000509593.2:n.*381_*396dup
ENST00000699585.1:c.3528_3543dup ENSP00000514456.1:p.Arg1182TrpfsTer16
ENST00000699598.1:c.3728_3743dup ENSP00000514467.1:p.Ser1251AsnfsTer19
ENST00000699599.1:c.3728_3743dup ENSP00000514468.1:p.Ser1251AsnfsTer19
ENST00000699600.1:c.*389_*404dup ENSP00000514469.1:n.*389_*404dup
ENST00000699601.1:c.*2103_*2118dup ENSP00000514470.1:n.*2103_*2118dup
ENST00000699602.1:c.3722_3737dup ENSP00000514471.1:p.Ser1249AsnfsTer19
ENST00000699604.1:c.*3552_*3567dup ENSP00000514472.1:n.*3552_*3567dup
ENST00000699605.1:c.3302_3317dup ENSP00000514473.1:p.Ser1109AsnfsTer19
ENST00000685018.1:c.476_491dup ENSP00000510194.1:p.Ser167AsnfsTer19
ENST00000687278.1:c.1515_1530dup ENSP00000509593.1:n.1515_1530dup
ENST00000689011.1:c.310_325dup
ENST00000003084.11:c.3728_3743dup MANE Select ENSP00000003084.6:p.Ser1251AsnfsTer19
ENST00000647720.1:c.1178_1193dup
ENST00000649781.1:c.3545_3560dup ENSP00000497203.1:p.Ser1190AsnfsTer19
ENST00000003084.10:c.3728_3743dup ENSP00000003084.6:p.Ser1251AsnfsTer19
ENST00000426809.5:c.3638_3653dup ENSP00000389119.1:p.Ser1221AsnfsTer19
NM_000492.3:c.3728_3743dup , LRG_663t1:c.3728_3743dup NP_000483.3:p.Ser1251AsnfsTer19
XM_011515751.1:c.3818_3833dup XP_011514053.1:p.Ser1281AsnfsTer19
XM_011515752.1:c.3818_3833dup XP_011514054.1:p.Ser1281AsnfsTer19
XM_011515753.1:c.3485_3500dup XP_011514055.1:p.Ser1170AsnfsTer19
XM_011515754.1:c.3485_3500dup XP_011514056.1:p.Ser1170AsnfsTer19
NM_000492.4:c.3728_3743dup MANE Select NP_000483.3:p.Ser1251AsnfsTer19